ArticleScience (New York, N.Y.)2020
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
2 registry-linked trialsOpen access · hybridAbstract read
In one paragraph
Article in Science (New York, N.Y.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 1,449 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
1,449citing papers in PubMed, 2 pooled it
161.8field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Interest of Plasma Exchange in Patients With Anti-interferon Type 1 Autoantibodies With Severe COVID-19 -
Impaired Type I IFN Immunity Due to Autoantibodies or a Genetic Defect: a Prospective National Cohort
Who cites it
1,449 citing papers in PubMed, 2 syntheses or guidelines pooled it, 2,377 citations in OpenAlex.
- Sex-specific autosomal susceptibility loci in systemic sclerosis: a genome-wide association study.The Lancet. Rheumatology · 2026Pooled it
- Overview of next-generation sequencing to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review.Frontiers in immunology · 2026Pooled it
- Effect of inhaled interferon-β1a on SARS-CoV-2 diversity and evolution.Microbiology spectrum · 2026Trial
- Biallelic loss-of-function PTPN6 variants lead to inflammatory lung disease and hemolytic anemia.The Journal of experimental medicine · 2026Article
- Autoantibodies neutralizing type I interferons in COVID-19 patients from southern Brazil.Journal of human immunity · 2026Article
- Systems genetics analysis reveals immune mediators of coronavirus disease severity in mice.Genetics · 2026Article
- A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.American journal of human genetics · 2026Article
- The Neanderthal-Derived 3p21 Haplotype at LZTFL1 in Modern-Day Moroccans Is Associated With COVID-19 Severity and Further Suggests the Presence of Neanderthals in North Africa.International journal of immunogenetics · 2026Article
- Population-Stratified Human Genetic Studies Are Not Eugenics: A Response to Donohue and Myles.Bioethics · 2026Article
- Trop-1/EpCAM Thr115 is a driver of hyperproliferative cell repair and of severe lung damage in COVID-19.iScience · 2026Article
- Mechanisms of antibody-dependent enhancement and its research progress in animal coronaviruses.Veterinary research · 2026Review
- Two novel kindreds with autosomal recessive STAT2 deficiency.Journal of human immunity · 2026Article
- Selective decay of interferon mRNAs controls antiviral immunity and innate memory.Molecular cell · 2026Article
- iProDNet: integrated probabilistic differential network inference under heterogeneous biological conditions.Briefings in bioinformatics · 2026Article
- Integrated Inflammatory, Thrombo-Inflammatory, Redox and Soluble IFNAR2 Profiling During Hospitalization for COVID-19: An Exploratory Observational Cohort Study.Journal of clinical medicine · 2026Article
- Article
- Innate immunity: current understandings and future perspectives.Signal transduction and targeted therapy · 2026Review
- The association of angiostatin and plasminogen plasma levels with Charlson comorbidity burden and mortality in COVID-19.Journal of thrombosis and thrombolysis · 2026Observational
- SARS-CoV-2 Infection-Induced Alterations in ADAR Editing Patterns Differ Between Patients Who Developed Critical Compared to Non-Critical COVID-19.International journal of molecular sciences · 2026Article
- Disentangling Shared and Differential Genetic Architectures Between COVID-19 and Other Respiratory Disorders-A Genome-Wide Multi-Omics Framework.International journal of molecular sciences · 2026Article
1,389 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
137 authors at 20 institutions in 17 countries.
Qian ZhangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-9040-3289
Paul Bastard *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-5926-8437
Zhiyong Liu *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Jérémie Le Pen *Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-7025-9526
Marcela Moncada-Velez *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-3073-5345
Jie Chen *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Masato Ogishi *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0003-2421-7389
Ira K D Sabli *Department of Paediatric Infectious Diseases & Virology, Imperial College London, London, UK.ORCID 0000-0002-0170-2990
Stephanie Hodeib *Department of Paediatric Infectious Diseases & Virology, Imperial College London, London, UK.ORCID 0000-0002-5978-6189
Cecilia Korol *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-0023-8823
Jérémie Rosain *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Kaya Bilguvar *Yale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-7313-7652
Junqiang Ye *Zukerman Mind Brain Behavior Institute, Columbia University, New York, NY, USA.
Alexandre Bolze *Helix, San Mateo, CA, USA.ORCID 0000-0001-7399-2766
Benedetta Bigio *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-7291-5638
Rui Yang *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0003-4427-2158
Andrés Augusto Arias *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-9478-8403
Qinhua Zhou *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-5112-3727
Yu Zhang *Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
Fanny OnodiUniversité de Paris, Institut de Recherche Saint-Louis, INSERM U976, Hôpital Saint-Louis, Paris, France.
Sarantis KorniotisUniversité de Paris, Institut de Recherche Saint-Louis, INSERM U976, Hôpital Saint-Louis, Paris, France.
Léa KarpfUniversité de Paris, Institut de Recherche Saint-Louis, INSERM U976, Hôpital Saint-Louis, Paris, France.
Quentin PhilippotLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Marwa ChbihiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-2771-851X
Lucie Bonnet-MadinLaboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR 7212, Université de Paris, Institut de Recherche Saint-Louis, Hôpital Saint-Louis, Paris, France.ORCID 0000-0002-9848-3287
Karim DorghamSorbonne Université, Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI PARIS), Assistance Publique-Hôpitaux de Paris (AP-HP) Hôpital Pitié-Salpêtrière, Paris, France.ORCID 0000-0001-9539-3203
Nikaïa SmithTranslational Immunology Lab, Institut Pasteur, Paris, France.ORCID 0000-0002-0202-612X
William M SchneiderLaboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-9407-6118
Brandon S RazookyLaboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-5263-1512
Hans-Heinrich HoffmannLaboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.ORCID 0000-0003-0554-0244
Eleftherios MichailidisLaboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-9907-4346
Leen MoensLaboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
Ji Eun HanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0003-1112-9320
Lazaro LorenzoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-6648-8684
Lucy BizienLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-9163-9122
Philip MeadeDepartment of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-6754-7209
Anna-Lena NeehusLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-8573-6820
Aileen Camille UgurbilSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-9450-3092
Aurélien CorneauSorbonne Université, UMS037, PASS, Plateforme de Cytométrie de la Pitié-Salpêtrière CyPS, Paris, France.
Gaspard KernerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-0146-9428
Peng ZhangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-6129-567X
Franck RapaportSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-6553-2110
Yoann SeeleuthnerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Jeremy ManryLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-5998-2051
Cecile MassonBioinformatics Platform, Structure Fédérative de Recherche Necker, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.ORCID 0000-0001-7870-7821
Yohann SchmittBioinformatics Platform, Structure Fédérative de Recherche Necker, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
Agatha SchlüterNeurometabolic Diseases Laboratory, IDIBELL-Hospital Duran i Reynals, CIBERER U759, and Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.ORCID 0000-0001-6732-1528
Tom Le VoyerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-0630-8626
Taushif KhanDepartment of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-7917-8965
Juan LiSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Jacques FellaySchool of Life sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.ORCID 0000-0002-8240-939X
Lucie RousselInfectious Disease Susceptibility Program, Research Institute, McGill University Health Centre, Montréal, Québec, Canada.ORCID 0000-0001-5355-702X
Mohammad ShahrooeiSpecialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.
Mohammed F AlosaimiDepartment of Pathology and Laboratory Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.ORCID 0000-0002-8025-3491
Davood MansouriDepartment of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Haya Al-SaudNational Center of Genomics Technology, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Fahd Al-MullaDasman Diabetes Institute, Department of Genetics and Bioinformatics, Kuwait.ORCID 0000-0001-5409-3829
Feras AlmourfiNational Center of Genomics Technology, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.ORCID 0000-0002-5166-4662
Saleh Zaid Al-MuhsenImmunology Research Laboratory, Department of Pediatrics, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Fahad AlsohimeDepartment of Pathology and Laboratory Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.ORCID 0000-0002-4979-3895
Saeed Al TurkiTranslational Pathology, Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Misery of National Guard Health Affairs, Riyadh, Saudi Arabia.ORCID 0000-0001-7017-336X
Rana HasanatoDepartment of Pathology and Laboratory Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.ORCID 0000-0002-4697-2222
Diederik van de BeekAmsterdam UMC, Department of Neurology, Amsterdam Neuroscience, Amsterdam, Netherlands.ORCID 0000-0002-4571-044X
Andrea BiondiPediatric Departement and Centro Tettamanti-European Reference Network PaedCan, EuroBloodNet, MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale, San Gerardo, Monza, Italy.
Laura Rachele BettiniPediatric Departement and Centro Tettamanti-European Reference Network PaedCan, EuroBloodNet, MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale, San Gerardo, Monza, Italy.ORCID 0000-0002-0280-1704
Mariella D'Angio'Pediatric Departement and Centro Tettamanti-European Reference Network PaedCan, EuroBloodNet, MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale, San Gerardo, Monza, Italy.
Paolo BonfantiDepartment of Infectious Diseases, San Gerardo Hospital-University of Milano-Bicocca, Monza, Italy.ORCID 0000-0001-7289-8823
Luisa ImbertiCREA Laboratory, Diagnostic Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
Alessandra SottiniCREA Laboratory, Diagnostic Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
Simone PagheraCREA Laboratory, Diagnostic Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
Eugenia Quiros-RoldanDepartment of Infectious and Tropical Diseases, University of Brescia and ASST Spedali di Brescia, Brescia, Italy.
Camillo RossiChief Medical Officer, ASST Spedali Civili di Brescia, Brescia, Italy.
Andrew J OlerBioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0002-6310-0434
Miranda F TompkinsPRIMER, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.ORCID 0000-0003-2941-7515
Camille AlbaPRIMER, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.ORCID 0000-0002-0458-1629
Isabelle VandernootCenter of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Jean-Christophe GoffardDepartment of Internal Medicine, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Guillaume SmitsCenter of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.ORCID 0000-0003-2845-6758
Isabelle MigeotteFonds de la Recherche Scientifique (FNRS) and Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Filomeen HaerynckDepartment of Paediatric Immunology and Pulmonology, Centre for Primary Immunodeficiency Ghent (CPIG), PID Research Lab, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.
Pere Soler-PalacinPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain.ORCID 0000-0002-0346-5570
Andrea Martin-NaldaPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain.ORCID 0000-0002-3590-0186
Roger ColobranImmunology Division, Genetics Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, UAB, Barcelona, Catalonia, Spain.ORCID 0000-0002-5964-536X
Pierre-Emmanuel MorangeAix Marseille Univ, INSERM, INRAE, C2VN, CHU Timone, Marseille, France.
Sevgi KelesNecmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey.
Fatma ÇölkesenDepartment of Infectious Diseases and Clinical Microbiology, Konya Training and Research Hospital, Konya, Turkey.ORCID 0000-0001-9545-5179
Tayfun OzcelikDepartment of Molecular Biology and Genetics, Bilkent University, Bilkent-Ankara, Turkey.
Kadriye Kart YasarDepartments of Infectious Diseases and Clinical Microbiology, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.ORCID 0000-0003-2963-4894
Sevtap SenogluDepartments of Infectious Diseases and Clinical Microbiology, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.ORCID 0000-0003-4796-9583
Şemsi Nur KarabelaDepartments of Infectious Diseases and Clinical Microbiology, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.ORCID 0000-0003-2562-3004
Carlos Rodríguez-GallegoDepartment of Immunology, Hospital Universitario de G.C. Dr. Negrín, Canarian Health System, Las Palmas de Gran Canaria, Spain.ORCID 0000-0002-4344-8644
Giuseppe NovelliDepartment of Biomedicine and Prevention, University of Rome "Tor Vergata," Rome, Italy.ORCID 0000-0002-7781-602X
Sami HraiechIntensive Care Unit, AP-HM, Marseille, France.
Yacine Tandjaoui-LambiotteAvicenne Hospital Intensive Care Unit, APHP, Bobigny, INSERM U1272 Hypoxia & Lung, Paris, France.ORCID 0000-0003-1123-4788
Xavier DuvalUniversité de Paris, IAME UMR-S 1137, INSERM, Paris, France.
Cédric LaouénanUniversité de Paris, IAME UMR-S 1137, INSERM, Paris, France.ORCID 0000-0002-3681-6314
COVID-STORM Clinicians
COVID Clinicians
Imagine COVID Group
French COVID Cohort Study Group
CoV-Contact Cohort
Amsterdam UMC Covid-19 Biobank
COVID Human Genetic Effort
NIAID-USUHS/TAGC COVID Immunity Group
Andrew L SnowDepartment of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.ORCID 0000-0002-8728-6691
Clifton L DalgardPRIMER, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.ORCID 0000-0003-2025-8239
Joshua D MilnerDivision of Pediatric Allergy, Immunology and Rheumatology, Columbia University, New York, USA.
Donald C VinhInfectious Disease Susceptibility Program, Research Institute, McGill University Health Centre, Montréal, Québec, Canada.ORCID 0000-0003-1347-7767
Trine H MogensenDepartment of Infectious Diseases, Aarhus University Hospital, Skejby, Denmark.ORCID 0000-0002-1853-9704
Nico MarrDepartment of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-1927-7072
András N SpaanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-5981-7259
Bertrand BoissonSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-5240-3555
Stéphanie Boisson-DupuisSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-7115-116X
Jacinta BustamanteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-3439-2482
Anne PuelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0003-2603-0323
Michael J CiancanelliSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-4623-852X
Isabelle MeytsLaboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.ORCID 0000-0003-1214-0302
Tom ManiatisZukerman Mind Brain Behavior Institute, Columbia University, New York, NY, USA.ORCID 0000-0002-2722-8633
Vassili SoumelisUniversité de Paris, Institut de Recherche Saint-Louis, INSERM U976, Hôpital Saint-Louis, Paris, France.
Ali AmaraLaboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR 7212, Université de Paris, Institut de Recherche Saint-Louis, Hôpital Saint-Louis, Paris, France.
Michel NussenzweigLaboratory of Molecular Immunology, Rockefeller University, New York, NY, USA.ORCID 0000-0003-0592-8564
Adolfo García-SastreDepartment of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-6551-1827
Florian KrammerDepartment of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0003-4121-776X
Aurora PujolNeurometabolic Diseases Laboratory, IDIBELL-Hospital Duran i Reynals, CIBERER U759, and Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.ORCID 0000-0002-9606-0600
Darragh DuffyTranslational Immunology Lab, Institut Pasteur, Paris, France.ORCID 0000-0002-8875-2308
Richard P Lifton *Laboratory of Genetics and Genomics, The Rockefeller University, New York, NY, USA.
Shen-Ying Zhang *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Guy Gorochov *Sorbonne Université, Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI PARIS), Assistance Publique-Hôpitaux de Paris (AP-HP) Hôpital Pitié-Salpêtrière, Paris, France.
Vivien Béziat *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-4020-824X
Emmanuelle Jouanguy *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-7358-9157
Vanessa Sancho-Shimizu *Department of Paediatric Infectious Diseases & Virology, Imperial College London, London, UK.ORCID 0000-0002-3519-0727
Charles M Rice *Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.
Laurent Abel *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-7016-6493
Luigi D Notarangelo *Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0002-8335-0262
Aurélie Cobat *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-7209-6257
Helen C Su *Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0002-5582-9110
Jean-Laurent Casanova *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu.ORCID 0000-0002-7782-4169
Inserm · FRRockefeller University · USUniversité Libre de Bruxelles · BEHoward Hughes Medical Institute · USNational Institutes of Health · USUniformed Services University of the Health Sciences · USKing Saud University · SACentre National de la Recherche Scientifique · FRHelix (United States) · USUniversidad Fernando Pessoa Canarias · ESAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITBakırköy Dr.Sadi Konuk Eğitim ve Araştırma Hastanesi · TRUniversitat Autònoma de Barcelona · ESUniversity of Milano-Bicocca · ITDuran i Reynals Hospital · ESHebron University · PSKU Leuven · BEUniversity of Rome Tor Vergata · ITCell Biologics (United States) · USGhent University Hospital · BE
Funding
COLLABORATIVE INFLUENZA VACCINE INNOVATION CENTER: UNIVERSAL INFLUENZA VACCINE RESEARCH75N93019C00051 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KRAMMER, FLORIAN · 2019 to 2025
$105.4MYale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MClinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0MDeveloping, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MSARS-CoV adaptations through a Systems Biology Lens (SYBIL)U19AI135972 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Adolfo Garcia-Sastre · 2018 to 2026
$27.2MUnderstanding B cell memory in response to diverse virus infectionsU19AI111825 · NIAID · ROCKEFELLER UNIVERSITY · PI BOURNAZOS, STYLIANOS · 2014 to 2023
$26.0MTechnology Development Project - Increasing the complexity of ex vivo human airway models for studying immune response to viral infectionU19AI142733 · NIAID · JACKSON LABORATORY · PI Adolfo Garcia-Sastre, Anna Karolina Palucka · 2019 to 2026
$23.1MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MMonogenic basis of resistance to SARS-CoV2 and predisposition to severe COVID-19R01AI088364 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$8.7MVirology CoreP01AI138938 · NIAID · ROCKEFELLER UNIVERSITY · PI NUSSENZWEIG, MICHEL C · 2018 to 2022
$8.4MMechanisms Controlling Expansion and Lineage Specification of Airway Progenitors in Development and DiseaseR35HL135834 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CARDOSO, WELLINGTON V. · 2017 to 2023
$6.7MType I interferon-stimulated genes and the antiviral immune responseR01AI091707 · NIAID · ROCKEFELLER UNIVERSITY · PI RICE, CHARLES M · 2011 to 2020
$5.5MMRF_ C0483NCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR001866NCATS NIH HHS UL1 TR001873NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006504NHLBI NIH HHS R35 HL135834NIAID NIH HHS 75N93019C00051NIAID NIH HHS HHSN272201400008CNIAID NIH HHS HHSN272201800048CNIAID NIH HHS P01 AI138938NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI091707NIAID NIH HHS U19 AI111825NIAID NIH HHS U19 AI135972NIAID NIH HHS U19 AI142733
Abstract
Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patients (3.5%) 17 to 77 years of age. We show that human fibroblasts with mutations affecting this circuit are vulnerable to SARS-CoV-2. Inborn errors of TLR3- and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection.
Indexed as
Loss of Function MutationAdolescentAdultAgedAged, 80 and overAllelesAsymptomatic InfectionsBetacoronavirusChildChild, PreschoolCoronavirus InfectionsCOVID-19FemaleGenetic LociGenetic Predisposition to DiseaseHumansIFNAR1 protein, humanInterferon Regulatory Factor-7Interferon Type IIRF7 protein, humanReceptor, Interferon alpha-betaTLR3 protein, humanToll-Like Receptor 3
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What Socratic holds
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Read underepoch 390
Registered trials
NCT05182515ClinicalTrials.gov
NCT06762002ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.